Heterotaxy syndrome occurs when the organs are not on the correct sides of the body. For example, the liver is usually on the right side of the body, but in someone with heterotaxy syndrome, the liver could be in the middle or on the left side of the body.

Patients with heterotaxy syndrome have many types of congenital heart defects, including:

Patients with heterotaxy could have no spleen (asplenia), have multiple small spleens (polysplenia) or a normal spleen. Since the spleen helps to fight certain infections, it is important that it functions well. The intestines of some patients with heterotaxy syndrome rotate incorrectly (malrotation). This can lead to bowel obstruction in some patients.

Heterotaxy Syndrome – Causes and Diagnosis

Some patients with heterotaxy syndrome have a specific gene that causes the problem. We do not know of any exposures or diseases in parents that leads to heterotaxy syndrome in their child.

Before birth, a fetal ultrasound and echocardiogram should be done to evaluate the position of the organs and to look for heart defects. After birth, the heart, intestines and spleen should be evaluated.

A baby with heterotaxy syndrome may have these symptoms:

  • When a heart murmur or low oxygen level indicates that there is a cardiac defect
  • From chronic infections from certain types of bacteria that lead us to look for spleen function
  • Bowel obstruction from malrotation

Patients could have mild forms of heterotaxy with normally functioning organs and never have the syndrome detected

Testing for heterotaxy syndrome includes:

  • Abdominal ultrasound – determines the position of the organs
  • Echocardiogram – shows the structure of the heart
  • Electrocardiogram – shows the electrical rhythm of the heart
  • Fetal ultrasound – shows the organs of the body
  • Upper GI study – shows if the intestines rotated normally

Additional tests may be done to evaluate how well the spleen is functioning. A blood test will also be sent to evaluate for genetic abnormalities.

Care Providers

The University of Maryland Children's Heart Program team that treats ASD includes a pediatric cardiac surgeon, pediatric cardiologists, pediatric and neonatal intensive care doctors and nurses, pediatric cardiac anesthesiologists, cardiac operating room staff, cardiac nurses and many others with expertise in providing this specialized cardiac care.

Our team of pediatric cardiologists also works closely with our clinical geneticists to explore all the possibilities if there is concern for a genetic syndrome.

Treating Heterotaxy Syndrome

Treatment for heterotaxy syndrome varies depending on the present conditions. Patients with congenital heart defects may need heart surgery, but the type depends on the specific heart defect. Patients with complex congenital heart defects may need several open heart surgeries.

Patients with malrotation may have surgery on their intestines to prevent bowel obstruction. If the spleen does not function normally, then daily antibiotics may be recommended to prevent serious bacterial infections.

Contact Us

  • To learn more about Maternal Fetal Heart medicine, please call 410-328-3865.
  • To make an appointment with a Children's Heart Program physician, please call 410-328-4348.